Incidental Mutation 'R7143:Spatc1l'
ID 553556
Institutional Source Beutler Lab
Gene Symbol Spatc1l
Ensembl Gene ENSMUSG00000009115
Gene Name spermatogenesis and centriole associated 1 like
Synonyms 1700022B01Rik, 1700027D21Rik
MMRRC Submission 045222-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7143 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 76398106-76406035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76405765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 323 (L323Q)
Ref Sequence ENSEMBL: ENSMUSP00000009259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009259] [ENSMUST00000105414]
AlphaFold Q9D9W0
Predicted Effect probably damaging
Transcript: ENSMUST00000009259
AA Change: L323Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009259
Gene: ENSMUSG00000009115
AA Change: L323Q

DomainStartEndE-ValueType
Pfam:Speriolin_N 1 155 1.9e-49 PFAM
Pfam:Speriolin_C 197 342 3e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105414
SMART Domains Protein: ENSMUSP00000101054
Gene: ENSMUSG00000009115

DomainStartEndE-ValueType
Pfam:Speriolin_N 1 155 3.6e-48 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik C T 7: 103,708,422 (GRCm39) C129Y probably damaging Het
Agbl4 A G 4: 111,474,333 (GRCm39) N374S probably damaging Het
Agl A G 3: 116,585,670 (GRCm39) S153P probably damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Ankrd17 C A 5: 90,433,820 (GRCm39) A650S possibly damaging Het
Ankrd53 A G 6: 83,739,893 (GRCm39) R16G possibly damaging Het
Apba2 T C 7: 64,394,165 (GRCm39) L570P probably damaging Het
Asap1 A G 15: 64,063,377 (GRCm39) F101L probably damaging Het
Cadm4 T A 7: 24,198,992 (GRCm39) I89N possibly damaging Het
Cadps C T 14: 12,491,838 (GRCm38) V771I probably benign Het
Cenph A G 13: 100,898,285 (GRCm39) V206A possibly damaging Het
Cenpn A G 8: 117,663,966 (GRCm39) T253A probably benign Het
Cep120 C T 18: 53,816,457 (GRCm39) G939R probably benign Het
Cfap57 G A 4: 118,477,906 (GRCm39) probably benign Het
Clip1 T C 5: 123,791,673 (GRCm39) I166V probably benign Het
Cstf3 T A 2: 104,476,961 (GRCm39) V144E probably benign Het
Cyp21a1 T A 17: 35,021,300 (GRCm39) H357L probably damaging Het
Cyth3 T A 5: 143,670,151 (GRCm39) V12E unknown Het
Dgat2 T C 7: 98,806,331 (GRCm39) I289V probably benign Het
Dip2a A G 10: 76,133,625 (GRCm39) C527R probably damaging Het
Dnah17 A C 11: 117,976,956 (GRCm39) W1879G probably damaging Het
Dnai2 A G 11: 114,645,076 (GRCm39) T504A possibly damaging Het
Efl1 C T 7: 82,411,888 (GRCm39) P759L probably damaging Het
Egfr A C 11: 16,821,627 (GRCm39) I351L probably benign Het
Ercc6 G A 14: 32,292,262 (GRCm39) E1209K probably damaging Het
Fam135b A T 15: 71,351,000 (GRCm39) M292K probably benign Het
Fbxl7 C A 15: 26,543,244 (GRCm39) V468L probably benign Het
Fhl2 G T 1: 43,181,011 (GRCm39) H60N probably damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Gata4 C A 14: 63,442,066 (GRCm39) R252L probably damaging Het
Glt8d1 T A 14: 30,728,602 (GRCm39) I10N probably damaging Het
Gm10803 T A 2: 93,394,304 (GRCm39) Y25* probably null Het
Gm19345 T C 7: 19,591,759 (GRCm39) F108S unknown Het
Gm4952 A G 19: 12,595,771 (GRCm39) T54A possibly damaging Het
Gprc6a C T 10: 51,490,986 (GRCm39) R921H probably benign Het
Hc A T 2: 34,940,450 (GRCm39) H129Q probably benign Het
Heatr5a T C 12: 52,008,251 (GRCm39) R31G probably benign Het
Hephl1 T C 9: 14,972,106 (GRCm39) K945E possibly damaging Het
Ik G T 18: 36,884,230 (GRCm39) M237I probably damaging Het
Izumo1 T A 7: 45,276,519 (GRCm39) S361T probably benign Het
Kcnq4 A G 4: 120,568,436 (GRCm39) F427L probably benign Het
Kifap3 T A 1: 163,683,609 (GRCm39) M430K possibly damaging Het
Kifap3 A T 1: 163,653,428 (GRCm39) N338I possibly damaging Het
Lamb3 A G 1: 192,986,873 (GRCm39) E53G probably damaging Het
Lrp1b A T 2: 41,202,655 (GRCm39) I1266K Het
Nat8 A T 6: 85,807,485 (GRCm39) I216K probably benign Het
Ncapd2 T C 6: 125,156,524 (GRCm39) I454V probably benign Het
Nlrp4f A T 13: 65,343,120 (GRCm39) V153E probably damaging Het
Nlrp4f G C 13: 65,347,166 (GRCm39) Q9E possibly damaging Het
Npy2r A T 3: 82,448,250 (GRCm39) I175N probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or1l4b A G 2: 37,036,886 (GRCm39) T221A probably benign Het
Or4a74 T C 2: 89,440,363 (GRCm39) M28V probably benign Het
Or52n3 C T 7: 104,530,393 (GRCm39) P160S probably damaging Het
Pcdh9 T C 14: 94,125,708 (GRCm39) N154S probably damaging Het
Pcdhb2 A T 18: 37,428,934 (GRCm39) E302D probably benign Het
Pclo T A 5: 14,908,836 (GRCm39) V5048E unknown Het
Pcnt A G 10: 76,224,894 (GRCm39) L1870S possibly damaging Het
Pigc T C 1: 161,798,161 (GRCm39) Y48H probably damaging Het
Pisd C T 5: 32,895,846 (GRCm39) V241I possibly damaging Het
Pkhd1l1 A T 15: 44,437,033 (GRCm39) M3464L possibly damaging Het
Pofut2 T A 10: 77,095,260 (GRCm39) I35N probably benign Het
Prss27 A G 17: 24,264,632 (GRCm39) Y265C probably damaging Het
Prss56 T A 1: 87,115,875 (GRCm39) I583K probably benign Het
Rnpep T C 1: 135,211,487 (GRCm39) E87G probably benign Het
Shtn1 T C 19: 59,007,338 (GRCm39) H304R probably damaging Het
Slc23a4 A T 6: 34,955,848 (GRCm39) I62N probably damaging Het
Slc35e2 A T 4: 155,703,051 (GRCm39) I355F probably benign Het
Snx25 T C 8: 46,488,752 (GRCm39) I868V possibly damaging Het
Speer4a2 T A 5: 26,290,674 (GRCm39) I166F probably benign Het
Taok1 A G 11: 77,428,814 (GRCm39) V962A probably benign Het
Tas2r140 A G 6: 133,032,482 (GRCm39) I92T probably benign Het
Trim17 C A 11: 58,856,010 (GRCm39) Y22* probably null Het
Tti1 T A 2: 157,849,596 (GRCm39) M548L probably benign Het
Unc93b1 T C 19: 3,985,204 (GRCm39) V4A unknown Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r225 A T 17: 20,722,646 (GRCm39) Y29F probably benign Het
Vmn1r34 A T 6: 66,614,648 (GRCm39) I30N probably benign Het
Vmn2r67 T A 7: 84,801,846 (GRCm39) M152L probably benign Het
Wdr20rt T G 12: 65,272,692 (GRCm39) F52V probably benign Het
Zfp869 G T 8: 70,159,306 (GRCm39) H422Q probably damaging Het
Other mutations in Spatc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:Spatc1l APN 10 76,405,490 (GRCm39) splice site probably benign
R0587:Spatc1l UTSW 10 76,400,011 (GRCm39) missense possibly damaging 0.76
R1079:Spatc1l UTSW 10 76,399,741 (GRCm39) missense probably damaging 1.00
R1909:Spatc1l UTSW 10 76,399,751 (GRCm39) missense probably damaging 0.99
R2050:Spatc1l UTSW 10 76,399,892 (GRCm39) missense probably damaging 1.00
R3786:Spatc1l UTSW 10 76,399,736 (GRCm39) missense probably benign 0.00
R4016:Spatc1l UTSW 10 76,398,323 (GRCm39) missense probably benign 0.00
R4803:Spatc1l UTSW 10 76,405,206 (GRCm39) missense probably damaging 1.00
R6620:Spatc1l UTSW 10 76,405,756 (GRCm39) missense probably damaging 1.00
R6896:Spatc1l UTSW 10 76,405,242 (GRCm39) missense probably damaging 1.00
R7832:Spatc1l UTSW 10 76,398,224 (GRCm39) missense probably benign 0.02
R9285:Spatc1l UTSW 10 76,398,264 (GRCm39) missense probably damaging 1.00
R9293:Spatc1l UTSW 10 76,405,200 (GRCm39) missense probably damaging 1.00
R9774:Spatc1l UTSW 10 76,405,168 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ATCGCTATCTGACTCTGACGG -3'
(R):5'- CCCTCAAAGAGCCAGAGGTAAG -3'

Sequencing Primer
(F):5'- CTATGGCATCCTGAAGCA -3'
(R):5'- AGCTTTTAATAAGGCAACAGGTG -3'
Posted On 2019-05-15